De Novo Occurrence of Novel SPG3A/Atlastin Mutation Presenting as Cerebral Palsy | Zendy

Shirley Rainier | Zendy; Carron Sher | Zendy; Orit Reish | Zendy; Donald A. Thomas | Zendy; John K. Fink | Zendy

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De Novo Occurrence of Novel SPG3A/Atlastin Mutation Presenting as Cerebral Palsy

Author(s) -

Shirley Rainier,

Carron Sher,

Orit Reish,

Donald A. Thomas,

John K. Fink

Publication year - 2006

Publication title -

archives of neurology

Language(s) - English

Resource type - Journals

eISSN - 1538-3687

pISSN - 0003-9942

DOI - 10.1001/archneur.63.3.445

Subject(s) - proband , hereditary spastic paraplegia , genetics , mutation , spastic , spasticity , spastic diplegia , biology , medicine , cerebral palsy , gene , physical medicine and rehabilitation , phenotype

Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported.

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